Walker-warburg syndrome

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy characterized by severe muscle weakness, abnormalities in the brain and eyes, and other medical problems. It is the most severe form of congenital muscular dystrophy and is often fatal in early infancy.

Symptoms

The symptoms of Walker-Warburg Syndrome typically become apparent at birth or shortly thereafter. These may include muscle weakness, developmental delays, intellectual disability, and seizures. Eye abnormalities such as retinal detachment and cataracts are also common. Some individuals may have additional features, such as hydrocephalus (an accumulation of fluid in the brain), microcephaly (a smaller than normal head size), and cleft lip and palate.

Causes

Walker-Warburg Syndrome is caused by mutations in several different genes, including the POMT1, POMT2, and FKTN genes. These genes are involved in the production of a protein called dystroglycan, which plays a crucial role in maintaining the structure and function of muscle cells. Mutations in these genes disrupt the normal function of dystroglycan, leading to the symptoms of Walker-Warburg Syndrome.

Diagnosis

The diagnosis of Walker-Warburg Syndrome is typically based on the presence of characteristic symptoms and confirmed through genetic testing. Imaging studies such as magnetic resonance imaging (MRI) may also be used to identify characteristic brain abnormalities.

Treatment

There is currently no cure for Walker-Warburg Syndrome, and treatment is symptomatic and supportive. This may include physical therapy to manage muscle weakness, medications to control seizures, and surgeries to correct eye abnormalities and other physical defects.

Prognosis

The prognosis for individuals with Walker-Warburg Syndrome is generally poor, with most individuals not surviving beyond the first few years of life. However, the severity of symptoms and life expectancy can vary widely from person to person.

See also

• Congenital muscular dystrophy
• Muscular dystrophy
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Walker-warburg syndrome

Walker-warburg syndrome is a rare disease.

Walker-warburg syndrome Resources
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